Lethal arteriopathy syndrome due to fibulin-4 deficiency

Orpha code: 314718OMIM code: 614437

Definition

Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.

Disease data
Classification

Disease

ORPHA code
314718
OMIM code
614437
ICD10 code
Q28.8
ICD11 code
-

No additional description.

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